Variant report

Variant	rs4715512
Chromosome Location	chr6:13716767-13716768
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:13716478-13716826	HepG2	liver:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668
2	CBX3	chr6:13716704-13717035	K562	blood:	n/a	n/a
3	MAFF	chr6:13716492-13716783	K562	blood:	n/a	chr6:13716650-13716668
4	MAFK	chr6:13716494-13716823	IMR90	lung:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668
5	MAFF	chr6:13716469-13716819	HepG2	liver:	n/a	chr6:13716650-13716668
6	MAFK	chr6:13716492-13716816	K562	blood:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668
7	MAFK	chr6:13716469-13716832	HepG2	liver:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668

No.	Distal block	Cell Line	Cell type
1	chr6:13614005..13616960-chr6:13716595..13718707,2	MCF-7	breast:
2	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
3	chr6:13713710..13717343-chr6:13751875..13754798,3	MCF-7	breast:
4	chr6:13659651..13661542-chr6:13715805..13717920,2	MCF-7	breast:
5	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:

Variant related genes	Relation type
RANBP9	TF binding region
ENSG00000252966	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10484251	1.00[CHB][hapmap];0.81[GIH][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs10948811	0.84[CHB][hapmap]
rs11753232	1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs11755634	0.84[CHB][hapmap]
rs11759518	1.00[CHB][hapmap];0.93[GIH][hapmap];0.81[ASN][1000 genomes]
rs1573702	0.84[CHB][hapmap]
rs17213683	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17797988	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17797994	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1963222	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1963223	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071836	0.84[CHB][hapmap]
rs2253217	0.81[CEU][hapmap]
rs2299026	1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs2299027	1.00[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs35930359	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752501	0.80[ASN][1000 genomes]
rs3757256	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846912	0.84[CHB][hapmap]
rs3906327	0.84[CHB][hapmap]
rs4712100	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56272112	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6459020	0.84[CHB][hapmap]
rs6911121	0.84[CHB][hapmap]
rs6935036	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831050	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831051	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72831055	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72831059	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72831061	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7744218	0.84[CHB][hapmap]
rs7760689	0.83[ASN][1000 genomes]
rs9475227	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475276	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3352859	chr6:13713873-13716971	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4715512	SIRT5	cis	parietal	SCAN
rs4715512	PAK1IP1	cis	parietal	SCAN
rs4715512	SIRT5	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13712800-13716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13712800-13717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:13713600-13717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:13714000-13718000	Weak transcription	Dnd41	blood
5	chr6:13714000-13722800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:13715000-13717000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:13715400-13716800	Enhancers	HepG2	liver
9	chr6:13716000-13717200	Weak transcription	Esophagus	oesophagus
10	chr6:13716000-13718400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:13716400-13717400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:13716600-13717400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:13716600-13722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links